HbA2 levels in normal adults are influenced by two distinct genetic mechanisms
S Menzel, C Garner, H Rooks… - British journal of …, 2013 - Wiley Online Library
S Menzel, C Garner, H Rooks, TD Spector, SL Thein
British journal of haematology, 2013•Wiley Online LibraryUsing a genome‐wide association study, we found that common inter‐individual differences
in haemoglobin A 2 (H b A 2, α2δ2) levels are largely governed by genetic factors (42% of
variability). The influence of age (1%) and sex (4%) was small. Hb A 2 levels were
influenced by two loci: the HBS 1L‐MYB locus on chromosome 6q, which has been shown
to have pleiotropic effects on other haematological traits; and a second locus surrounding
HBB, the gene encoding β‐globin. Our results suggest that HbA 2 levels in adults are …
in haemoglobin A 2 (H b A 2, α2δ2) levels are largely governed by genetic factors (42% of
variability). The influence of age (1%) and sex (4%) was small. Hb A 2 levels were
influenced by two loci: the HBS 1L‐MYB locus on chromosome 6q, which has been shown
to have pleiotropic effects on other haematological traits; and a second locus surrounding
HBB, the gene encoding β‐globin. Our results suggest that HbA 2 levels in adults are …
Summary
Using a genome‐wide association study, we found that common inter‐individual differences in haemoglobin A2 (HbA2, α2δ2) levels are largely governed by genetic factors (42% of variability). The influence of age (1%) and sex (4%) was small. HbA2 levels were influenced by two loci: the HBS1L‐MYB locus on chromosome 6q, which has been shown to have pleiotropic effects on other haematological traits; and a second locus surrounding HBB, the gene encoding β‐globin. Our results suggest that HbA2 levels in adults are influenced by two different biological processes: one via kinetics of erythropoiesis, and the other, via competition between HBB and HBD activity.
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